Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis | Zendy

Masaki Matsushita | Zendy; Hiroshi Kitoh | Zendy; Hiroshi Kaneko | Zendy; Kenichi Mishima | Zendy; Yasutomo Itoh | Zendy; Tatsuya Hattori | Zendy; Naoki Ishiguro | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis

Author(s) -

Masaki Matsushita,

Hiroshi Kitoh,

Hiroshi Kaneko,

Kenichi Mishima,

Yasutomo Itoh,

Tatsuya Hattori,

Naoki Ishiguro

Publication year - 2011

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000336581

Subject(s) - missense mutation , compound heterozygosity , cathepsin c , mutation , genetics , mutant , gene , cathepsin k , microbiology and biotechnology , short stature , cathepsin d , medicine , biology , endocrinology , biochemistry , enzyme , osteoclast , in vitro

We report on female siblings with pyknodysostosis who showed common clinical and radiographic features including disproportionate short stature, dental abnormalities, increased bone density, open fontanelle, and acroosteolysis. Sequence analysis of the cathepsin K (CTSK) gene demonstrated compound heterozygous mutations (935 C>T, A277V and 489 G>C, R122P) in the affected siblings and a heterozygous mutation in their parents. The former missense mutation has previously been reported in 6 unrelated patients, and the latter seemed to be a novel mutation. Atomic model assessment of the CTSK gene revealed that the R122P mutant could disrupt hydrogen bonds binding with chondroitin 4-sulfate leading to a decrease in the collagen-degrading activity of cathepsin K.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research